Canonical Allele Identifier: CA10587286

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 260971
• ClinVar RCV Id: RCV000249092 ; RCV000629501
• dbSNP Id: rs886038640
• MyVariant Identifiers: chr17:g.78071131C>G (hg19) ; chr17:g.80097332C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80097332C>G , CM000679.2:g.80097332C>G	GRCh38
NC_000017.10:g.78071131C>G , CM000679.1:g.78071131C>G	GRCh37
NC_000017.9:g.75685726C>G	NCBI36
NG_009822.1:g.777C>G , LRG_673:g.777C>G
NG_029761.1:g.65701C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.3109C>G MANE Select	ENSP00000380679.4:p.Leu1037Val
ENST00000397545.8:c.3109C>G	ENSP00000380679.4:p.Leu1037Val
ENST00000572253.5:n.3360C>G
ENST00000574799.5:n.2646C>G
NM_017950.3:c.3109C>G	NP_060420.2:p.Leu1037Val
XM_011524963.1:c.3019C>G	XP_011523265.1:p.Leu1007Val
XM_011524964.1:c.1930C>G	XP_011523266.1:p.Leu644Val
XM_011524963.3:c.3019C>G	XP_011523265.1:p.Leu1007Val
XM_011524964.3:c.1930C>G	XP_011523266.1:p.Leu644Val
XM_024450821.1:c.3019C>G	XP_024306589.1:p.Leu1007Val
XR_934495.2:n.3227C>G
NM_017950.4:c.3109C>G MANE Select	NP_060420.2:p.Leu1037Val